Variant report

Variant	esv1815431
Chromosome Location	chr8:117630683-117633032
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16892766	chr8:117630683-117630684	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
2	rs185732959	chr8:117630694-117630695	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190536107	chr8:117630764-117630765	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370487360	chr8:117630765-117630766	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17743323	chr8:117630795-117630796	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs16892769	chr8:117630814-117630815	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111380673	chr8:117630884-117630885	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368280131	chr8:117630914-117630915	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370935688	chr8:117630929-117630930	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192965783	chr8:117630945-117630946	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541365612	chr8:117630994-117630995	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6990788	chr8:117631012-117631013	Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs200235517	chr8:117631013-117631014	Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs58147231	chr8:117631014-117631015	Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113597398	chr8:117631080-117631081	Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534511569	chr8:117631090-117631091	Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531758729	chr8:117631147-117631148	Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543669923	chr8:117631188-117631189	Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549889276	chr8:117631220-117631221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113776113	chr8:117631228-117631229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142364167	chr8:117631257-117631258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145925001	chr8:117631278-117631279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566292806	chr8:117631298-117631299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111549496	chr8:117631331-117631332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6469652	chr8:117631335-117631336	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567429432	chr8:117631337-117631338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537882645	chr8:117631341-117631342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10105966	chr8:117631352-117631353	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs7011668	chr8:117631382-117631383	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs116503665	chr8:117631397-117631398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188897321	chr8:117631400-117631401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572571447	chr8:117631429-117631430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542830524	chr8:117631446-117631447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17805446	chr8:117631479-117631480	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs149279966	chr8:117631481-117631482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528382590	chr8:117631505-117631506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557288643	chr8:117631553-117631554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564886381	chr8:117631581-117631582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532475987	chr8:117631590-117631591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547454165	chr8:117631627-117631628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548534354	chr8:117631635-117631636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566353476	chr8:117631651-117631652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7822969	chr8:117631676-117631677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs367806734	chr8:117631689-117631690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548890255	chr8:117631736-117631737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567593196	chr8:117631737-117631738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577188339	chr8:117631769-117631770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375786615	chr8:117631777-117631778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549806347	chr8:117631786-117631787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7823142	chr8:117631788-117631789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117630400-117631000	Enhancers	Stomach Smooth Muscle	stomach
2	chr8:117630400-117631200	Enhancers	Fetal Lung	lung
3	chr8:117630400-117631400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:117630400-117631400	Enhancers	Fetal Stomach	stomach
5	chr8:117630600-117630800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:117630600-117631000	Weak transcription	Right Atrium	heart
7	chr8:117630600-117631200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:117630800-117631000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:117630800-117631200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:117630800-117631200	Enhancers	Stomach Mucosa	stomach
11	chr8:117630800-117631600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:117631000-117631200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:117631000-117631200	Genic enhancers	Right Atrium	heart
14	chr8:117631000-117631400	Enhancers	Fetal Brain Female	brain
15	chr8:117631000-117631400	Enhancers	Fetal Kidney	kidney
16	chr8:117631000-117631600	Enhancers	Fetal Brain Male	brain
17	chr8:117631000-117631600	Enhancers	Left Ventricle	heart
18	chr8:117631200-117635400	Weak transcription	Fetal Lung	lung
19	chr8:117631200-117635400	Weak transcription	Right Atrium	heart
20	chr8:117631200-117641600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:117631400-117635400	Weak transcription	Fetal Stomach	stomach
22	chr8:117631600-117635600	Weak transcription	Left Ventricle	heart
23	chr8:117632400-117633000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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